Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.851 | 0.240 | 16 | 3930444 | downstream gene variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.240 | 17 | 9028802 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 6 | 24290975 | missense variant | T/C | snv | 0.65 | 0.51 | 0.020 | 1.000 | 2 | 2016 | 2017 | |||
|
2 | 0.925 | 0.120 | 6 | 24341129 | intron variant | C/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 6 | 24174101 | 3 prime UTR variant | C/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 6 | 24347889 | intron variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 6 | 24644094 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.120 | 1 | 35549410 | intron variant | G/A | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 5 | 171534296 | TF binding site variant | C/T | snv | 0.56 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 6 | 24205008 | synonymous variant | G/A | snv | 0.13 | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.120 | 6 | 24588656 | missense variant | C/G;T | snv | 1.6E-05; 0.33 | 0.030 | 1.000 | 3 | 2005 | 2016 | ||||
|
1 | 1.000 | 0.120 | 15 | 55508896 | upstream gene variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 3 | 134545716 | missense variant | G/A;T | snv | 6.0E-05; 3.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 19 | 19233884 | missense variant | G/A;T | snv | 1.4E-04; 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 21 | 46547064 | 3 prime UTR variant | C/A;T | snv | 0.13 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 12 | 101752780 | intron variant | C/T | snv | 1.7E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 17 | 10663547 | upstream gene variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 7 | 111847042 | missense variant | C/T | snv | 1.8E-02 | 7.9E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 21 | 46551626 | splice region variant | G/A | snv | 0.71 | 0.75 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 1 | 35557258 | 5 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 6 | 24648227 | upstream gene variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.120 | 19 | 43795740 | intron variant | T/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 7 | 148229642 | splice region variant | A/G | snv | 0.22 | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.120 | 7 | 114522685 | intron variant | G/A | snv | 0.67 | 0.010 | 1.000 | 1 | 2017 | 2017 |